The cost of what we do: rare diseases and living in oblivion

by Marjorie Leclerc
| Feb 20, 2019

In my own qualitative research experience, working on rare diseases is often fascinating, though sometimes challenging. Many of these challenges are easy to guess—practical constraints, finding patients and the physicians who treat them and understanding the specific challenges of each individual rare disease. However, other challenges also come into play – such as the difficulty of talking to clients who have already spoken to all of the experts or who are not aware of any guidelines at all; as well as difficulty in interacting with patients and families who are struggling with debilitating conditions for which there are no treatments available.

Considering this, I wasn't expecting a recent experience that turned out to be truly perspective-changing. I was working on a very rare genetic disease. There are two sub-types of this rare disease, one is fatal in early childhood and the other is not, and my work involved the non-systematically fatal one. This sub-type progresses slowly and affected patients may develop heavy cardiac and pulmonary problems. Since symptomatic treatments are the only therapies currently available, when the cardiac or respiratory symptoms have already occurred, patients require regular follow-up from childhood through the rest of their lives.

The study design involved interviewing patients and the parents of young patients to uncover the patient pathway before diagnosis, as our client had recently received FDA approval for their treatment but had assumed the pathway was long and tedious (not entirely right in view of the results but this is another story). While patients of rare diseases are usually very willing to participate, they are sometimes difficult to find and those that are willing to involve themselves are often part of advocacy groups. These patients might not be representative of the entire patient community. We also tend to count on patient willingness to raise awareness for their rare disease by sharing their experience – perhaps a bit too much.

For my study on this rare genetic disease, our access to the patients was through the physicians involved in the study and I comforted myself with the thought that parents would naturally be happy with the chance to share their story. During this highly-difficult and lengthy recruitment period, I was relieved to receive an update that we'd found a mother of two affected children willing to be interviewed. However, this feeling did not last long, as the mother cancelled the interview after discussing it with her husband. I had not anticipated that talking to us is not a trivial decision and is something that you discuss with your family first. I felt uncomfortable with the thought that I had previously denied acknowledging that we were interfering in people’s lives. And, I felt even worse realizing that I needed her so badly!

I decided to write her an email. I'd be lying if I said I didn't want to change her mind, but I did not hold out much hope and I really wanted to confirm her decision: remind her of the objective of the study; reassure her of the type of questions that would be asked; and how we would use the results. Most importantly, I needed to feel better after having previously taken her participation for granted. Surprisingly, she changed her mind and agreed to participate.

I was happy but also concerned that this mother did not want the experience to be too emotionally intense. However, it was obvious from the first minute we talked that she had made up her mind to fully share her experience. We remained very factual, focused about the pre-diagnosis pathway for most of the interview time, concentrating on dates, signs, physicians and tests.

And then the life shined through. I saw glimpses of the stress, doubts and relived moments that came together to show the true impact of rare disease on someone’s life. Life decisions, family life, life beyond the disease.

How she decided to have another child despite being aware of the risks of transmitting the disease and of the possibility of reducing the risks via IVF – “We had our first child via IVF, going through this hell again, no way! If we were to have another child, it would be naturally. I also thought that maybe this child would not have the disease and could be a bone marrow donor for his brother, I did not say that to my husband though.”

How she and her husband ultimately decided to move on with life – “The kids were so normal, we forget they are sick because they’re so great and we cannot spend our entire life worrying, and they do everything as everyone else, they run, play, laugh the same.”

How she has the right to forget and move on, without being judged – “I must admit, from time to time we forget about it. When we receive the letter for the follow-up it’s like a slap in the face. What can I say, it’s a very stressful pathway, with all the tests, the days-hospitalizations and so on, until we knew what it was. From this time on, each year, after the 3-days check-up, we say: ‘everything is fine, one more year won over the disease!’ Then we almost forget again.”

This experience put me back in my place.

I am not the one offering a voice to patients with rare diseases. They are the ones giving me the gift of their story – at an expensive cost. The right to take refuge into their personal oblivion.